#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
LAS1L	81887	genome.wustl.edu	37	X	64749615	64749615	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chrX:64749615C>T	ENST00000374811.3	-	5	698	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LAS1L_ENST00000312391.8_Missense_Mutation_p.D220N|LAS1L_ENST00000374804.5_Missense_Mutation_p.D178N|LAS1L_ENST00000374807.5_Missense_Mutation_p.D220N	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	220					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTGATGTCATCAACAACAATG	0.502																																						dbGAP											0			X											256.0	213.0	228.0					X																	64749615		2203	4300	6503	64666340	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.658G>A	X.37:g.64749615C>T	ENSP00000363944:p.Asp220Asn	Somatic	185	3.63	7		68	0.00	0	WXS	Illumina HiSeq	Phase_IV	64666340	147	41.73	106	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	HMMPfam_Las1	p.D220N	ENST00000374811.3	37	c.658	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505104	0.26949	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.47	4.61	0.57282	.	0.414969	0.22532	N	0.058821	T	0.35885	0.0947	L	0.51422	1.61	0.27023	N	0.964418	B;P;B	0.41848	0.01;0.763;0.011	B;B;B	0.39027	0.021;0.288;0.008	T	0.23261	-1.0193	9	0.39692	T	0.17	.	9.4493	0.38717	0.0:0.8994:0.0:0.1006	.	178;220;220	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	N	220;220;178;220	.	ENSP00000308649:D220N	D	-	1	0	LAS1L	64666340	0.872000	0.30054	0.182000	0.23118	0.009000	0.06853	1.460000	0.35244	1.191000	0.43056	-0.192000	0.12808	GAT	-	NULL		0.502	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64666340	-1	no_errors	NM_031206.3	genbank	human	provisional	54_36p	missense	SNP	0.442	T
LPPR4	9890	genome.wustl.edu	37	1	99772369	99772369	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr1:99772369G>A	ENST00000370185.3	+	7	2592	c.2095G>A	c.(2095-2097)Gga>Aga	p.G699R	LPPR4_ENST00000457765.1_Missense_Mutation_p.G641R|LPPR4_ENST00000370184.1_Missense_Mutation_p.G541R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		699					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCACCACCACGGAATTACCAC	0.527																																						dbGAP											0			1											72.0	63.0	66.0					1																	99772369		2203	4300	6503	99544957	SO:0001583	missense	0																														ENST00000370185.3:c.2095G>A	1.37:g.99772369G>A	ENSP00000359204:p.Gly699Arg	Somatic	82	6.82	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	99544957	159	25.12	54	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase	p.G699R	ENST00000370185.3	37	c.2095	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342162	0.61073	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.36;1.82	6.02	6.02	0.97574	.	0.477070	0.23165	N	0.051184	T	0.28433	0.0703	L	0.29908	0.895	0.47153	D	0.999339	D;D	0.69078	0.997;0.99	P;P	0.59948	0.866;0.587	T	0.00666	-1.1619	9	.	.	.	-13.5534	20.5407	0.99260	0.0:0.0:1.0:0.0	.	641;699	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	699;641;541	ENSP00000359204:G699R;ENSP00000394913:G641R;ENSP00000359203:G541R	.	G	+	1	0	RP4-788L13.1	99544957	1.000000	0.71417	0.419000	0.26584	0.951000	0.60555	4.313000	0.59160	2.865000	0.98341	0.655000	0.94253	GGA	-	NULL		0.527	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	G			99544957	+1	no_errors	NM_014839.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HIST3H3	8290	genome.wustl.edu	37	1	228612763	228612763	+	Silent	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr1:228612763C>T	ENST00000366696.1	-	1	263	c.264G>A	c.(262-264)tcG>tcA	p.S88S		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	88					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCATCACGGCCGAGCTCTGGA	0.592																																						dbGAP											0			1											92.0	87.0	89.0					1																	228612763		2203	4300	6503	226679386	SO:0001819	synonymous_variant	0			Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.264G>A	1.37:g.228612763C>T		Somatic	43	0.00	0		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	226679386	84	22.94	25	B2R5K3|Q6FGU4	Silent	SNP	HMMSmart_SM00428,PatternScan_HISTONE_H3_1,HMMPfam_Histone,superfamily_Histone-fold	p.S88	ENST00000366696.1	37	c.264	CCDS1572.1	1																																																																																			-	HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold		0.592	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H3	protein_coding	OTTHUMT00000096595.2	C	NM_003493		226679386	-1	no_errors	NM_003493.2	genbank	human	reviewed	54_36p	silent	SNP	0.986	T
SYNGAP1	8831	genome.wustl.edu	37	6	33391288	33391288	+	Silent	SNP	C	C	T	rs147913000	byFrequency	TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr6:33391288C>T	ENST00000418600.2	+	2	203	c.102C>T	c.(100-102)taC>taT	p.Y34Y	SYNGAP1_ENST00000293748.5_Silent_p.Y34Y|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	34					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAACCCAATACGTTCATTCCC	0.527																																						dbGAP											0			6						C		5,4401	9.9+/-24.2	0,5,2198	258.0	224.0	235.0		102	1.9	1.0	6	dbSNP_134	235	0,8600		0,0,4300	no	coding-synonymous	SYNGAP1	NM_006772.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		34/1344	33391288	5,13001	2203	4300	6503	33499266	SO:0001819	synonymous_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.102C>T	6.37:g.33391288C>T		Somatic	67	10.67	8		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	33499266	73	43.85	57	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like	p.Y19	ENST00000418600.2	37	c.57	CCDS34434.2	6																																																																																			-	HMMSmart_SM00233		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407		33499266	+1	no_errors	NM_006772.2	genbank	human	validated	54_36p	silent	SNP	1.000	T
GRB10	2887	genome.wustl.edu	37	7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr7:50674041G>A	ENST00000401949.1	-	14	1734	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_ENST00000398810.2_Missense_Mutation_p.T364M|GRB10_ENST00000402497.1_Missense_Mutation_p.T364M|GRB10_ENST00000439599.1_Missense_Mutation_p.T416M|GRB10_ENST00000407526.1_Missense_Mutation_p.T364M|GRB10_ENST00000335866.3_Missense_Mutation_p.T364M|GRB10_ENST00000406641.1_Missense_Mutation_p.T364M|GRB10_ENST00000357271.5_Missense_Mutation_p.T376M|GRB10_ENST00000403097.1_Missense_Mutation_p.T416M|GRB10_ENST00000402578.1_Missense_Mutation_p.T364M|GRB10_ENST00000398812.2_Missense_Mutation_p.T422M			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	422					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T422M(1)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome																													dbGAP											2	Substitution - Missense(2)	endometrium(2)	7											106.0	110.0	109.0					7																	50674041		1975	4150	6125	50641535	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1265C>T	7.37:g.50674041G>A	ENSP00000385770:p.Thr422Met	Somatic	84	5.62	5		15	42.31	11	WXS	Illumina HiSeq	Phase_IV	50641535	131	40.81	91	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_PH domain-like,superfamily_SH2 domain	p.T422M	ENST00000401949.1	37	c.1265	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620564	0.28801	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.54;-1.54;-1.68;-1.68;-1.68;-1.54;-1.68;-1.53;-1.68;-1.54;-1.68	5.34	5.34	0.76211	.	0.201005	0.52532	D	0.000063	T	0.78259	0.4255	L	0.31926	0.97	0.31484	N	0.666761	B;B;B	0.29270	0.24;0.24;0.049	B;B;B	0.29440	0.063;0.102;0.018	T	0.79266	-0.1874	10	0.56958	D	0.05	-6.8663	19.0286	0.92946	0.0:0.0:1.0:0.0	.	416;376;422	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	M	422;416;364;364;364;416;364;376;364;422;364	ENSP00000381793:T422M;ENSP00000406716:T416M;ENSP00000338543:T364M;ENSP00000381790:T364M;ENSP00000385189:T364M;ENSP00000385544:T416M;ENSP00000385366:T364M;ENSP00000349818:T376M;ENSP00000385046:T364M;ENSP00000385770:T422M;ENSP00000385748:T364M	ENSP00000338543:T364M	T	-	2	0	GRB10	50641535	0.991000	0.36638	0.009000	0.14445	0.042000	0.13812	6.235000	0.72332	2.463000	0.83235	0.655000	0.94253	ACG	-	NULL		0.517	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	protein_coding	OTTHUMT00000319157.1	G			50641535	-1	no_errors	NM_005311.2	genbank	human	reviewed	54_36p	missense	SNP	0.292	A
DLC1	10395	genome.wustl.edu	37	8	13357421	13357421	+	Missense_Mutation	SNP	G	G	A	rs368389913		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr8:13357421G>A	ENST00000276297.4	-	2	569	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	DLC1_ENST00000316609.5_Missense_Mutation_p.R54C|DLC1_ENST00000511869.1_Missense_Mutation_p.R54C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	54					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R54C(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCTCTTTGCGGTCCACATTT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20297	0.0		0.001	False		,,,				2504	0.0					dbGAP											3	Substitution - Missense(3)	endometrium(3)	8						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	238.0	248.0	244.0		160,160	3.7	1.0	8		244	1,8599		0,1,4299	no	missense,missense	DLC1	NM_024767.3,NM_182643.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	54/464,54/1529	13357421	1,13005	2203	4300	6503	13401792	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.160C>T	8.37:g.13357421G>A	ENSP00000276297:p.Arg54Cys	Somatic	100	1.96	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	13401792	144	42.91	109	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like	p.R54C	ENST00000276297.4	37	c.160	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968782	0.53614	0.0	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.43688	0.94;0.94;0.94	5.53	3.72	0.42706	.	0.361089	0.20507	N	0.090965	T	0.47469	0.1447	L	0.43923	1.385	0.32445	N	0.546189	B;D;D	0.71674	0.139;0.998;0.978	B;P;B	0.56700	0.018;0.804;0.425	T	0.59402	-0.7461	10	0.66056	D	0.02	.	10.1016	0.42509	0.2117:0.0:0.7883:0.0	.	54;54;54	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	C	54	ENSP00000276297:R54C;ENSP00000321034:R54C;ENSP00000425878:R54C	ENSP00000276297:R54C	R	-	1	0	DLC1	13401792	1.000000	0.71417	0.999000	0.59377	0.405000	0.30901	2.818000	0.48041	1.486000	0.48398	0.655000	0.94253	CGC	-	NULL		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		13401792	-1	no_errors	NM_182643.3	genbank	human	reviewed	54_36p	missense	SNP	0.992	A
SORCS3	22986	genome.wustl.edu	37	10	106802834	106802834	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr10:106802834G>C	ENST00000369701.3	+	5	1203	c.976G>C	c.(976-978)Gga>Cga	p.G326R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	326					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGACTTTGGAAGACGGTG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0			10											223.0	201.0	208.0					10																	106802834		2203	4300	6503	106792824	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.976G>C	10.37:g.106802834G>C	ENSP00000358715:p.Gly326Arg	Somatic	102	3.77	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	106792824	118	48.26	111	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296	p.G326R	ENST00000369701.3	37	c.976	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560380	0.86335	.	.	ENSG00000156395	ENST00000369701	D	0.87256	-2.23	5.64	5.64	0.86602	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.83012	2.62	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.94221	0.7467	10	0.87932	D	0	.	16.9987	0.86376	0.0:0.0:1.0:0.0	.	326	Q9UPU3	SORC3_HUMAN	R	326	ENSP00000358715:G326R	ENSP00000358715:G326R	G	+	1	0	SORCS3	106792824	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.944000	0.75940	2.823000	0.97156	0.643000	0.83706	GGA	-	HMMSmart_VPS10,superfamily_SSF110296		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106792824	+1	no_errors	NM_014978.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR52D1	390066	genome.wustl.edu	37	11	5510840	5510840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:5510840G>T	ENST00000322641.5	+	1	926	c.904G>T	c.(904-906)Gag>Tag	p.E302*	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAACCAAGGAGATTCGGAG	0.448																																						dbGAP											0			11											79.0	74.0	75.0					11																	5510840		2201	4297	6498	5467416	SO:0001587	stop_gained	0			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.904G>T	11.37:g.5510840G>T	ENSP00000326232:p.Glu302*	Somatic	98	1.01	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	5467416	220	22.57	65	B9EGY9|Q6IFI6	Nonsense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.E302*	ENST00000322641.5	37	c.904	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265428	0.40095	.	.	ENSG00000181609	ENST00000322641	.	.	.	5.58	1.41	0.22369	.	0.184267	0.38058	N	0.001835	.	.	.	.	.	.	0.44432	D	0.997359	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.0608	0.59005	0.0638:0.4309:0.5053:0.0	.	.	.	.	X	302	.	ENSP00000326232:E302X	E	+	1	0	OR52D1	5467416	1.000000	0.71417	0.449000	0.26957	0.284000	0.27059	1.813000	0.38962	0.151000	0.19162	-0.795000	0.03280	GAG	-	superfamily_Family A G protein-coupled receptor-like		0.448	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	protein_coding	OTTHUMT00000143372.1	G	NM_001005163		5467416	+1	no_errors	NM_001005163.1	genbank	human	provisional	54_36p	nonsense	SNP	0.986	T
PTPRJ	5795	genome.wustl.edu	37	11	48158724	48158724	+	Silent	SNP	C	C	T	rs140686417		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:48158724C>T	ENST00000418331.2	+	10	2395	c.2043C>T	c.(2041-2043)gaC>gaT	p.D681D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	681	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAATTACTGACGCTACAGTCA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22775	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			11											170.0	157.0	161.0					11																	48158724		2201	4298	6499	48115300	SO:0001819	synonymous_variant	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2043C>T	11.37:g.48158724C>T		Somatic	55	1.79	1		22	29.03	9	WXS	Illumina HiSeq	Phase_IV	48115300	108	42.55	80	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_PTPc,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799	p.D681	ENST00000418331.2	37	c.2043	CCDS7945.1	11																																																																																			-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.478	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	C			48115300	+1	no_errors	NM_002843.1	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
DRD2	1813	genome.wustl.edu	37	11	113287658	113287658	+	Silent	SNP	G	G	A	rs202047707		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:113287658G>A	ENST00000362072.3	-	4	803	c.459C>T	c.(457-459)acC>acT	p.T153T	DRD2_ENST00000544518.1_Silent_p.T152T|DRD2_ENST00000346454.3_Silent_p.T153T|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000542968.1_Silent_p.T153T|DRD2_ENST00000355319.2_Silent_p.T153T|DRD2_ENST00000538967.1_Silent_p.T153T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	153					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGATCATGACGGTGACCCGGC	0.582																																						dbGAP											0			11											145.0	112.0	123.0					11																	113287658		2201	4296	6497	112792868	SO:0001819	synonymous_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.459C>T	11.37:g.113287658G>A		Somatic	150	5.06	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	112792868	188	27.76	73	Q9NZR3|Q9UPA9	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.T153	ENST00000362072.3	37	c.459	CCDS8361.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.582	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795		112792868	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	silent	SNP	0.950	A
CBL	867	genome.wustl.edu	37	11	119148875	119148875	+	Splice_Site	SNP	G	G	C	rs397517077|rs397517076		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:119148875G>C	ENST00000264033.4	+	8	1471		c.e8-1			NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTAATCAAAGGAACAATATG	0.299			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	11											39.0	39.0	39.0					11																	119148875		2199	4295	6494	118654085	SO:0001630	splice_region_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1096-1G>C	11.37:g.119148875G>C		Somatic	95	2.06	2		1	96.55	28	WXS	Illumina HiSeq	Phase_IV	118654085	168	19.91	43	A3KMP8	Splice_Site	SNP	-	e8-1	ENST00000264033.4	37	c.1096-1	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594099	0.86953	.	.	ENSG00000110395	ENST00000264033	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBL	118654085	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.827000	0.97445	0.650000	0.86243	.	-	-		0.299	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	protein_coding	OTTHUMT00000388219.4	G	NM_005188	Intron	118654085	+1	no_errors	NM_005188.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
ZFC3H1	196441	genome.wustl.edu	37	12	72030356	72030356	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr12:72030356T>C	ENST00000378743.3	-	9	2372	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	672					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATACTGACTATTGATAGATTG	0.418																																						dbGAP											0			12											163.0	153.0	156.0					12																	72030356		1882	4117	5999	70316623	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2014A>G	12.37:g.72030356T>C	ENSP00000368017:p.Ile672Val	Somatic	110	0.90	1		36	21.74	10	WXS	Illumina HiSeq	Phase_IV	70316623	122	22.15	35	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	HMMSmart_SM00386,HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase	p.I672V	ENST00000378743.3	37	c.2014	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886595	0.33348	.	.	ENSG00000133858	ENST00000378743	T	0.46819	0.86	5.16	5.16	0.70880	.	0.319446	0.29307	N	0.012525	T	0.25494	0.0620	N	0.14661	0.345	0.80722	D	1	B	0.18461	0.028	B	0.14578	0.011	T	0.15350	-1.0440	10	0.30078	T	0.28	.	3.5414	0.07812	0.1905:0.1254:0.0:0.684	.	672	O60293	ZC3H1_HUMAN	V	672	ENSP00000368017:I672V	ENSP00000368017:I672V	I	-	1	0	ZFC3H1	70316623	0.984000	0.35163	0.998000	0.56505	0.965000	0.64279	2.083000	0.41615	1.943000	0.56356	0.383000	0.25322	ATA	-	NULL		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	T	NM_144982		70316623	-1	no_errors	NM_144982.4	genbank	human	validated	54_36p	missense	SNP	0.832	C
PTPN11	5781	genome.wustl.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	T	rs121918454		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr12:112888199C>T	ENST00000351677.2	+	3	413	c.215C>T	c.(214-216)gCc>gTc	p.A72V	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	38	Substitution - Missense(38)	haematopoietic_and_lymphoid_tissue(38)	12	GRCh37	CM013417	PTPN11	M	rs121918454						154.0	142.0	146.0					12																	112888199		2203	4300	6503	111372582	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>T	12.37:g.112888199C>T	ENSP00000340944:p.Ala72Val	Somatic	37	7.50	3		31	13.89	5	WXS	Illumina HiSeq	Phase_IV	111372582	103	26.24	37	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.A72V	ENST00000351677.2	37	c.215	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.157169	0.94686	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96716	-4.1;-4.1	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.75447	2.3	0.80722	D	1	D;D	0.64830	0.987;0.994	P;P	0.57371	0.725;0.819	D	0.97615	1.0132	10	0.87932	D	0	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	V	72	ENSP00000376376:A72V;ENSP00000340944:A72V	ENSP00000340944:A72V	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	C			111372582	+1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ISLR	3671	genome.wustl.edu	37	15	74467891	74467891	+	Missense_Mutation	SNP	C	C	T	rs543753338		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr15:74467891C>T	ENST00000249842.3	+	2	1049	c.692C>T	c.(691-693)gCg>gTg	p.A231V	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A231V	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	231	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCATGCTCGGCGCCCTCAGTG	0.672																																						dbGAP											0			15											34.0	33.0	33.0					15																	74467891		2198	4294	6492	72254944	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.692C>T	15.37:g.74467891C>T	ENSP00000249842:p.Ala231Val	Somatic	15	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	72254944	35	25.53	12		Missense_Mutation	SNP	HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058	p.A231V	ENST00000249842.3	37	c.692	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891344	0.17613	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.50277	0.75;0.75	4.21	4.21	0.49690	.	0.264459	0.24843	U	0.035159	T	0.37128	0.0992	L	0.60455	1.87	0.24134	N	0.995758	P	0.39352	0.669	B	0.27076	0.076	T	0.34650	-0.9820	10	0.33940	T	0.23	.	11.2368	0.48944	0.0:0.9098:0.0:0.0902	.	231	O14498	ISLR_HUMAN	V	231	ENSP00000249842:A231V;ENSP00000378550:A231V	ENSP00000249842:A231V	A	+	2	0	ISLR	72254944	0.807000	0.29009	0.123000	0.21794	0.087000	0.18053	3.701000	0.54793	1.902000	0.55061	0.313000	0.20887	GCG	-	superfamily_SSF48726,superfamily_SSF52058		0.672	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	protein_coding	OTTHUMT00000269044.1	C	NM_005545		72254944	+1	no_errors	NM_005545.3	genbank	human	validated	54_36p	missense	SNP	0.299	T
KIF1C	10749	genome.wustl.edu	37	17	4905792	4905792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr17:4905792C>T	ENST00000320785.5	+	7	820	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	155	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGAGCGGGTACGAGACCTCTT	0.522																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0			17											169.0	174.0	172.0					17																	4905792		2203	4300	6503	4846516	SO:0001587	stop_gained	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.463C>T	17.37:g.4905792C>T	ENSP00000320821:p.Arg155*	Somatic	118	7.09	9		4	20.00	1	WXS	Illumina HiSeq	Phase_IV	4846516	78	42.75	59	D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	HMMPfam_FHA,HMMSmart_FHA,HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SMAD_FHA,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540	p.R155*	ENST00000320785.5	37	c.463	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.171102	0.98111	.	.	ENSG00000129250	ENST00000320785	.	.	.	5.43	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1562	0.54079	0.0:0.9163:0.0:0.0837	.	.	.	.	X	155	.	ENSP00000320821:R155X	R	+	1	2	KIF1C	4846516	0.974000	0.33945	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	1.448000	0.47680	0.561000	0.74099	CGA	-	HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540		0.522	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	C			4846516	+1	no_errors	NM_006612.4	genbank	human	provisional	54_36p	nonsense	SNP	0.997	T
SERPINB4	6318	genome.wustl.edu	37	18	61305098	61305098	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr18:61305098G>A	ENST00000341074.5	-	8	1143	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A291V	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	343					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GGCAGCTGCAGCTTCCACTCC	0.483																																						dbGAP											0			18											99.0	96.0	97.0					18																	61305098		2203	4300	6503	59456078	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1028C>T	18.37:g.61305098G>A	ENSP00000343445:p.Ala343Val	Somatic	84	2.33	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	59456078	139	20.90	37	A8K847	Missense_Mutation	SNP	HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin	p.A343V	ENST00000341074.5	37	c.1028	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713048	0.89112	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.86497	-2.13;-2.13	4.51	4.51	0.55191	Serpin domain (3);	0.000000	0.41396	D	0.000896	D	0.95626	0.8578	H	0.96175	3.78	0.46131	D	0.998885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.976;0.955;0.996	D	0.97029	0.9749	10	0.87932	D	0	.	16.7417	0.85461	0.0:0.0:1.0:0.0	.	343;343;322	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	V	343;291	ENSP00000343445:A343V;ENSP00000348795:A291V	ENSP00000343445:A343V	A	-	2	0	SERPINB4	59456078	1.000000	0.71417	0.218000	0.23776	0.041000	0.13682	5.322000	0.65852	2.488000	0.83962	0.609000	0.83330	GCT	-	HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin		0.483	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	protein_coding	OTTHUMT00000133794.2	G	NM_175041		59456078	-1	no_errors	NM_002974.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
THOC5	8563	genome.wustl.edu	37	22	29939470	29939470	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr22:29939470A>C	ENST00000490103.1	-	4	424	c.302T>G	c.(301-303)cTt>cGt	p.L101R	THOC5_ENST00000397873.2_Missense_Mutation_p.L101R|THOC5_ENST00000397871.1_Missense_Mutation_p.L101R|THOC5_ENST00000397872.1_Missense_Mutation_p.L101R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	101	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAATCGGTTAAGCTTCTTTAG	0.448																																						dbGAP											0			22											176.0	172.0	173.0					22																	29939470		2203	4300	6503	28269470	SO:0001583	missense	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.302T>G	22.37:g.29939470A>C	ENSP00000420306:p.Leu101Arg	Somatic	231	7.57	19		20	50.00	20	WXS	Illumina HiSeq	Phase_IV	28269470	200	42.74	150	O60839|Q9UPZ5	Missense_Mutation	SNP	HMMPfam_FimP	p.L101R	ENST00000490103.1	37	c.302	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872986	0.91664	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.52526	1.57;1.57;1.57;1.57;0.66	5.62	5.62	0.85841	.	0.062618	0.64402	D	0.000003	T	0.72471	0.3464	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.904;0.998	T	0.77814	-0.2448	10	0.87932	D	0	-2.6193	15.8124	0.78576	1.0:0.0:0.0:0.0	.	101;101	F8WCP5;Q13769	.;THOC5_HUMAN	R	101;101;101;101;101;97;101	ENSP00000420306:L101R;ENSP00000380970:L101R;ENSP00000380969:L101R;ENSP00000380971:L101R;ENSP00000415425:L97R	ENSP00000444493:L101R	L	-	2	0	THOC5	28269470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.944000	0.92980	2.138000	0.66242	0.455000	0.32223	CTT	-	HMMPfam_FimP		0.448	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	protein_coding	OTTHUMT00000322097.1	A	NM_003678		28269470	-1	no_errors	NM_001002877.1	genbank	human	validated	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	DEL	AGA	AGA	-			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	AGA	AGA	AGA	-	AGA	AGA	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chrUnknown:0delAGA								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			2																																								36958649	SO:0001628	intergenic_variant	0																															Unknown.37:g.0delAGA		Somatic	0	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	36958647	0	0.00	0		In_Frame_Del	DEL	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_Striatin,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.S405in_frame_del		37	c.1214_1212		2																																																																																			-	NULL	0	0					STRN			AGA			36958649	-1	no_errors	NM_003162.2	genbank	human	validated	54_36p	in_frame_del	DEL	0.997:1.000:0.996	-
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	DEL	A	A	-			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	A	A	A	-	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chrUnknown:0delA								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			10																																								125516574	SO:0001628	intergenic_variant	0																															Unknown.37:g.0delA		Somatic	0	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	125516574	0	0.00	0		Frame_Shift_Del	DEL	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Carboxypeptidase regulatory domain,superfamily_Galactose-binding domain-like,superfamily_Zn-dependent exopeptidases	p.L462fs		37	c.1384		10																																																																																			-	HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases	0	0					CPXM2			A			125516574	-1	no_errors	NM_198148.2	genbank	human	validated	54_36p	frame_shift_del	DEL	0.596	-
KANSL1	284058	genome.wustl.edu	37	17	44248614	44248615	+	Frame_Shift_Ins	INS	-	-	G	rs201785695	byFrequency	TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr17:44248614_44248615insG	ENST00000262419.6	-	2	1365_1366	c.895_896insC	c.(895-897)cgcfs	p.R299fs	KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.R299fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	299					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTGTAATCTGCGGGCACGGCTC	0.465																																						dbGAP											0			17																																								41604392	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.896dupC	17.37:g.44248617_44248617dupG	ENSP00000262419:p.Arg299fs	Somatic	113	0.00	0		77	12.50	11	WXS	Illumina HiSeq	Phase_IV	41604391	176	21.08	47	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	NULL	p.R299fs	ENST00000262419.6	37	c.896_895	CCDS11503.1	17																																																																																			-	NULL		0.465	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIAA1267	protein_coding	OTTHUMT00000440274.1	-	NM_015443		41604392	-1	no_errors	NM_015443.2	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	G
